STRENGTHENING THE SUS WITH GENETIC DIAGNOSIS: PIAUÍ'S EXPERIENCE IN MAPPING CHROMOSOMAL ABNORMALIES OVER FOUR YEARS

Abstract

INTRODUCTION: Chromosomal alterations are responsible for various anomalies and health disorders, and early identification is essential for clinical guidance and genetic counseling. G-banding karyotyping is the primary technique used to detect these alterations. OBJECTIVE: To describe the clinical, epidemiological, and cytogenetic profile of patients undergoing karyotypic analysis at LIB-UFPI during the first four years of operation (2020–2023). METHODOLOGY: This is an observational, descriptive, and retrospective study analyzing conventional cytogenetic tests performed at LIB-UFPI. Variables such as age, sex, requesting specialty, and karyotypic results were evaluated. Data were statistically analyzed using absolute and relative frequencies. RESULTS: During the period, 444 tests were performed, representing a significant increase of over 1500% in demand. A diverse range of clinical profiles was observed, with emphasis on newborns with suspected trisomies, children with neurodevelopmental delays, adolescents with characteristics of Turner syndrome, and adults undergoing investigation of infertility or hematologic malignancies. DISCUSSION: Data analysis highlights the impact of the decentralization of laboratory genetics in the state of Piauí. The implementation of the cytogenetics department at LIB-UFPI expanded access to early diagnosis of chromosomal syndromes. The service has established itself as a strategic tool for multidisciplinary support, promoting equity in care and contributing to the implementation of the National Policy on Rare Diseases. CONCLUSION: Karyotyping has proven effective as an initial test for various genetic conditions, with an impact that goes beyond diagnosis, promoting social inclusion and guaranteeing rights. In a context of structural inequalities, strengthening public laboratory genetics is essential, and this study reinforces the importance of increasing investment in complementary technologies and specialized training to ensure comprehensive care for people with rare diseases.